Comments on: No choice for youhttp://genomesunzipped.org/2013/03/no-choice-for-you.php public personal genomicsWed, 25 Oct 2017 20:13:32 +0000hourly1http://wordpress.org/?v=4.3.15By: To know, or not to know: that is the question | GeneYouIn - Genetic Testing and Consulting ServicesGeneYouIn – Genetic Testing and Consulting Serviceshttp://genomesunzipped.org/2013/03/no-choice-for-you.php#comment-1084335 Wed, 10 Jul 2013 02:09:16 +0000http://genomesunzipped.org/?p=5462#comment-1084335[…] http://genomesunzipped.org/2013/03/no-choice-for-you.php […] ]]>By: Gholson Lyon (@GholsonLyon)http://genomesunzipped.org/2013/03/no-choice-for-you.php#comment-868768 Tue, 30 Apr 2013 23:57:34 +0000http://genomesunzipped.org/?p=5462#comment-868768I am not sure why there are so many blog postings in such a short time on this topic on this site (particularly from the same author), as various comments from many of us are sprinkled throughout the other postings. But, in response to Sherri Bale above, I will reiterate that we live in a capitalist world, and most people will NOT do the right thing if it costs them money, unless they HAVE to. These guidelines are one SMALL step toward doing the right thing.

To explain why I say this, I would like to get to a world of millions of whole genomes shared and analyzed for numerous additive, epistatic interactions and gene X environment interactions, so that we can only then begin to make any reliable predictions for any one human being, particularly taking their ancestry into account. We need to sequence and collate the raw data from thousands and then millions of exomes and genomes, so that we can actually begin to really understand the expressivity patterns of any mutation in the human genome in any one person. I also talked about this in the comments section over at the Nature blog regarding the recent ACMG guidelines as well: http://blogs.nature.com/news/2013/03/patients-should-learn-about-secondary-genetic-risk-factors-say-sequencing-lab-guidelines.html

Wow! This is totally not the case! In fact, the labs are in an uproar about these recommendations. We are at medico-legal risk by reporting this rather odd set of “known pathogenic” and “expected pathogenic” (terms not defined by the ACMG) due to they are so open to interpretation, lack of available information to assess variants (BRCA1/2 being the most egregious), subjective decisions about what are KP or EP. And we have to report them regardless of whether the patient/family wants them. And we fly in the face of other guidelines that recommend against reporting adult-onset disorders in minors. The costs associated with this new guidance is totally not re-imbursable. I could go on and on….

Indeed, if a doctor knew that I am positive for familial hypercholesterolemia, and tells me after my first cardiovascular event that he was not in a position to let me know about this, I would find this behaviour inacceptable (and most people will agree with me I think). Not letting the patient know seems vastly more problematic than the possible fear and confusion created by the knowledge of variants with unclear effects.

There will always be difficult situations, and one will have to make subjective calls. But these difficulties should not change the rather obvious fact that, in the relatively rare cases where genetic knowledge can avoid a major health issue, common sense suggests that we must act. We should deal with the complexity and define appropriate guidelines, rather than using these difficulties as an excuse for not doing the obvious right thing.

]]>By: Johttp://genomesunzipped.org/2013/03/no-choice-for-you.php#comment-732034 Fri, 29 Mar 2013 12:39:54 +0000http://genomesunzipped.org/?p=5462#comment-732034Important to note that many parents will simply do this on their own, even if it is not perfect. Direct to Consumer kits will allow parents and individuals to test themselves. Many more people have signed up for kits than are in geneticists’ offices. I think researchers will have to take this into account. The control WILL be in the patients’ hands and there is no way to stop that. ]]>By: Genedochttp://genomesunzipped.org/2013/03/no-choice-for-you.php#comment-731635 Fri, 29 Mar 2013 08:36:53 +0000http://genomesunzipped.org/?p=5462#comment-731635Prenatal is worse! It is extremely difficult for an anxious couple to cope with hearing about hypothetical, potential risks in a detached and analytical manner. In the prenatal setting you need as much certainty as possible. I think this decision, to notify of incidental findings, comes from medico legal fears from the labs. We have similar issues with CGH arrays, reporting 200kb duplications containing no genes! We are obliged to tell the family as the result then sits in their medical record and could be accessed later. It often takes an hour to explain these, in a public service where patients wait 12 months for an appointment. It is a massive waste of resources. ]]>By: GMhttp://genomesunzipped.org/2013/03/no-choice-for-you.php#comment-731062 Fri, 29 Mar 2013 02:51:49 +0000http://genomesunzipped.org/?p=5462#comment-731062Most of these ethical issues could easily be eliminated if the sequencing was done prenatally. ]]>